{"title":"A case of uterine leiomyosarcoma in a survivor of hereditary retinoblastoma.","authors":"Mitsuhiro Kirita, Yuki Himoto, Yuka Kuriyama Matsumoto, Yasuhisa Kurata, Aki Kido, Yusuke Yamaoka, Koji Yamanoi, Masaki Mandai, Sachiko Minamiguchi, Yuji Nakamoto","doi":"10.1007/s00261-025-04943-7","DOIUrl":null,"url":null,"abstract":"<p><p>Survivors of hereditary retinoblastoma have increased risk of subsequent primary malignancies due to RB1 mutation. We report uterine leiomyosarcoma (LMS) in a hereditary retinoblastoma survivor. She had follow-up for leiomyomas, with pelvic MRI showing typical leiomyomas two years prior. She presented with abdominal distention, and MRI revealed a massive tumor with LMS characteristics where a leiomyoma was previously observed. Chest CT showed a nodule suspicious for metastasis in the left lung. Total hysterectomy with bilateral salpingo-oophorectomy and partial lung resection was performed. Pathology confirmed LMS with pulmonary metastasis. Immunostaining showed complete RB1 loss in tumor cells. LMS was suspected to have arisen near a pre-existing leiomyoma or resulted from its malignant transformation. Continuous follow-up is necessary in hereditary retinoblastoma survivors.</p>","PeriodicalId":7126,"journal":{"name":"Abdominal Radiology","volume":" ","pages":""},"PeriodicalIF":2.3000,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Abdominal Radiology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00261-025-04943-7","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
引用次数: 0
Abstract
Survivors of hereditary retinoblastoma have increased risk of subsequent primary malignancies due to RB1 mutation. We report uterine leiomyosarcoma (LMS) in a hereditary retinoblastoma survivor. She had follow-up for leiomyomas, with pelvic MRI showing typical leiomyomas two years prior. She presented with abdominal distention, and MRI revealed a massive tumor with LMS characteristics where a leiomyoma was previously observed. Chest CT showed a nodule suspicious for metastasis in the left lung. Total hysterectomy with bilateral salpingo-oophorectomy and partial lung resection was performed. Pathology confirmed LMS with pulmonary metastasis. Immunostaining showed complete RB1 loss in tumor cells. LMS was suspected to have arisen near a pre-existing leiomyoma or resulted from its malignant transformation. Continuous follow-up is necessary in hereditary retinoblastoma survivors.
期刊介绍：
Abdominal Radiology seeks to meet the professional needs of the abdominal radiologist by publishing clinically pertinent original, review and practice related articles on the gastrointestinal and genitourinary tracts and abdominal interventional and radiologic procedures. Case reports are generally not accepted unless they are the first report of a new disease or condition, or part of a special solicited section.
Reasons to Publish Your Article in Abdominal Radiology:
· Official journal of the Society of Abdominal Radiology (SAR)
· Published in Cooperation with:
European Society of Gastrointestinal and Abdominal Radiology (ESGAR)
European Society of Urogenital Radiology (ESUR)
Asian Society of Abdominal Radiology (ASAR)
· Efficient handling and Expeditious review
· Author feedback is provided in a mentoring style
· Global readership
· Readers can earn CME credits
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